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    GIMAP8 GTPase, IMAP family member 8 [ Homo sapiens (human) ]

    Gene ID: 155038, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GIMAP8provided by HGNC
    Official Full Name
    GTPase, IMAP family member 8provided by HGNC
    Primary source
    HGNC:HGNC:21792
    See related
    Ensembl:ENSG00000171115 MIM:616962; AllianceGenome:HGNC:21792
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IAN6; IAN9; IANT; IAN-9
    Summary
    This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in spleen (RPKM 22.2), lung (RPKM 17.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GIMAP8 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (150450630..150479393)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (151628981..151657741)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150147718..150176481)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26832 Neighboring gene long intergenic non-protein coding RNA 996 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:150173983-150175182 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:150176633-150176867 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 1 Neighboring gene STE20-related kinase adaptor beta pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human immune associated nucleotide 1: a member of a new guanosine triphosphatase family expressed in resting T and B cells. Cambot M, et al. Blood, 2002 May 1. PMID 11964296
    2. Expression of the Ian family of putative GTPases during T cell development and description of an Ian with three sets of GTP/GDP-binding motifs. Dion C, et al. Int Immunol, 2005 Sep. PMID 16103028
    3. Structural insights into the mechanism of GTPase activation in the GIMAP family. Schwefel D, et al. Structure, 2013 Apr 2. PMID 23454188
    4. Human ortholog to mouse gene imap38 encoding an ER-localizable G-protein belongs to a gene family clustered on chromosome 7q32-36. Stamm O, et al. Gene, 2002 Jan 9. PMID 11814688
    5. Comparative analysis of the human gimap gene cluster encoding a novel GTPase family. Krücken J, et al. Gene, 2004 Oct 27. PMID 15474311

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129545, DKFZp667I133

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of T cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    GTPase IMAP family member 8
    Names
    human immune associated nucleotide 6
    immune-associated nucleotide-binding protein 9

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_175571.4 → NP_783161.1  GTPase IMAP family member 8

      See identical proteins and their annotated locations for NP_783161.1

      Status: REVIEWED

      Source sequence(s)
      AL834361, BC107037, DA241971
      Consensus CDS
      CCDS34777.1
      UniProtKB/Swiss-Prot
      A0A090N8H2, Q8ND71
      Related
      ENSP00000305107.3, ENST00000307271.4
      Conserved Domains (1) summary
      cd01852
      Location:439 → 638
      AIG1; AvrRpt2-Induced Gene 1 (AIG1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      150450630..150479393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249950.5 → XP_005250007.1  GTPase IMAP family member 8 isoform X1

      See identical proteins and their annotated locations for XP_005250007.1

      UniProtKB/Swiss-Prot
      A0A090N8H2, Q8ND71
      Conserved Domains (1) summary
      cd01852
      Location:439 → 638
      AIG1; AvrRpt2-Induced Gene 1 (AIG1)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      151628981..151657741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357352.1 → XP_054213327.1  GTPase IMAP family member 8 isoform X1

      UniProtKB/Swiss-Prot
      A0A090N8H2, Q8ND71
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8ND71.2 GenPept UniProtKB/Swiss-Prot:Q8ND71

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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